Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia
Sign Up to like & getrecommendations! Published in 2020 at "Andrologia"
DOI: 10.1111/and.13937
Abstract: The disorders of sexual development (DSD) represent an array of phenotypes with ambiguous genitalia. The present case had microphallus with fused and bifid scrotum and was initially assigned androgen insensitivity syndrome; however, sequencing of the… read more here.
Keywords: srd5a2 gene; gene case; case; gene ... See more keywords
Genotype–Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of General Medicine"
DOI: 10.2147/ijgm.s377675
Abstract: Objective The 5α-reductase type 2 deficiency is mainly caused by mutations in the SRD5A2 gene. Our study aims to investigate the SRD5A2 gene mutations and their corresponding manifestations. Methods Four unrelated Chinese patients with 46,… read more here.
Keywords: unrelated chinese; srd5a2 gene; four unrelated; mutation ... See more keywords
Molecular Characterization of Two Known SRD5A2 Gene Variants in Mexican Patients With Disorder of Sexual Development
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.794476
Abstract: Background: The 5α-reductase type 2 deficiency (5α-RD2) is a specific form of disorder of sexual development (DSD). Pathogenic variants in the SRD5A2 gene, which encodes this enzyme, are responsible for 46,XY DSD. Objective: The objective… read more here.
Keywords: development; srd5a2 gene; disorder sexual; sexual development ... See more keywords
Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development
Sign Up to like & getrecommendations! Published in 2018 at "Asian Journal of Andrology"
DOI: 10.4103/aja.aja_34_18
Abstract: and ovaries. Serum levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), progestin (PROG), T, and prolactin (PRL) for the proband were measured using UniCel Dxl 800 atutomatic immunoassay system (Beckman Coulter, Brea, CA,… read more here.
Keywords: srd5a2 gene; disorder; sex; dsd ... See more keywords